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Paper Details

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
5
2023
CxxC-domain, DNA, KDM2B, KDM2B episignature, KDM2B variants, KDM2B-related neurodevelopmental disorder, Lysine, Lysine-demethylase 2B, NDD, NDDs, attention deficit disorder, attention deficit hyperactivity disorder, autism, congenital organ anomalies, developmental delay, facial dysmorphism, intellectual disability, mouse, neurodevelopment disorders, peripheral blood
Author NameAffiliation
Paolo Fontana
Marco TartagliaBambino Gesu Children's Hospital, IRCCS
Romano TenconiClinical Genetics Unit, University of Padova
Christopher A WalshDivision of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital
Christopher A WalshDivision of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital
Giuseppe ZampinoCenter for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Catholic University of Sacred Heart
Renske OegemaUniversity Medical Center Utrecht
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